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Aquagenic wrinkling and cystic fibrosis carriership: A dubious relationship

Published:September 20, 2018DOI:https://doi.org/10.1016/j.ejim.2018.09.007
      Pruritic wrinkling of the palmar skin following brief contact with water, aka aquagenic wrinkling of the palms (AW), has been repeatedly described as a clinical manifestation of cystic fibrosis (CF), the most frequent severe autosomal recessive disease in caucasians. AW has been reported also in individuals where a single mutation of the gene responsible for CF (CF Transmembrane Regulator, CFTR) had been detected. A study on a small population reported a 1 in 4 frequency of AW among carriers [
      • Gild R.
      • Clay C.D.
      • Morey S.
      Aquagenic wrinkling of the palms in cystic fibrosis and the cystic fibrosis carrier state: a case–control study.
      ,
      • Weibel L.
      • Spinas R.
      Images in clinical medicine. Aquagenic wrinkling of palms in cystic fibrosis.
      ], and it has been suggested that this dermatological manifestation is a signal of CF carriership [
      • Thomas J.M.
      • Durack A.
      • Sterling A.
      • Todd P.M.
      • Tomson N.
      Aquagenic wrinkling of the palms: a diagnostic clue to cystic fibrosis carrier status and non-classic disease.
      ]. Little information is generally provided on heterozygotes with AW and apparently a sweat test or a careful interview on minor clinical manifestations compatible with mild forms of CF were not performed. Importantly, the extent of genetic analysis is not stated and it is unclear if the whole gene was sequenced.

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